Abstract
Previous reports have described an association between hematologic malignancies (HMs) and extragonadal germ cell tumor (GCT). Most patients have been adolescent males with mediastinal nonseminomatous GCT. Although a variety of HMs have been reported, there is a striking predilection toward acute megakaryoblastic leukemia (AMKL). Shared cytogenetic anomalies-particularly isochromosome 12p [i(12p)]-have suggested common clonal origins to the tumors. We report the case of a 17-year-old boy presenting with AMKL and a synchronous mediastinal GCT, with the characteristic i(12p) in both neoplasms. The common clonal origin of the AMKL and GCT was further confirmed with massively parallel sequencing, which identified somatic TP53 and PTEN mutations, as well as a rare germline ATM variant. Although these represent commonly mutated genes in cancer, this combination of mutations is not typically associated with either GCT or AMKL, suggesting that these tumors may represent unique biologic entities when they co-occur.
Original language | English (US) |
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Pages (from-to) | 153-159 |
Number of pages | 7 |
Journal | Cancer Genetics |
Volume | 207 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2014 |
Keywords
- ATM
- Acute megakaryoblastic leukemia
- Germ cell tumor
- Isochromosome 12p
- PTEN
- TP53
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Cancer Research